1173036000: Combined oxidative phosphorylation defect type 23 (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\...

\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23

\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Combined oxidative phosphorylation defect type 23

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Combined oxidative phosphorylation defect type 23
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Combined oxidative phosphorylation defect type 23
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Combined oxidative phosphorylation defect type 23

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Combined oxidative phosphorylation defect type 23
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Combined oxidative phosphorylation defect type 23
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 23
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 23
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Combined oxidative phosphorylation defect type 23
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Combined oxidative phosphorylation defect type 23
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 23
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 23
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Combined oxidative phosphorylation defect type 23
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 23
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Combined oxidative phosphorylation defect type 23
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Combined oxidative phosphorylation defect type 23
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Combined oxidative phosphorylation defect type 23
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 23
\Disease\Metabolic disease\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 23
\Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Combined oxidative phosphorylation defect type 23
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 23
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Combined oxidative phosphorylation defect type 23
\Disease\Developmental disorder\Developmental hereditary disorder\Combined oxidative phosphorylation defect type 23

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4637166016 Combined oxidative phosphorylation defect type 23 en Synonym Active Case insensitive SNOMED CT core

4637167013 Combined oxidative phosphorylation defect type 23 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4637168015 COXPD23 - combined oxidative phosphorylation defect type 23 en Synonym Active Case sensitive SNOMED CT core

4637169011 A rare mitochondrial disease with characteristics of early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Combined oxidative phosphorylation defect type 23	Is a	Intellectual disability	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Is a	Mitochondrial respiratory chain complexes disorder	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Is a	Mitochondrial cytopathy	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Due to	Mitochondrial cytopathy	true	Inferred relationship	Some	4
Combined oxidative phosphorylation defect type 23	Occurrence	Congenital	true	Inferred relationship	Some	1
Combined oxidative phosphorylation defect type 23	Finding site	Structure of nervous system	true	Inferred relationship	Some	2
Combined oxidative phosphorylation defect type 23	Finding site	Myocardium structure	true	Inferred relationship	Some	3
Combined oxidative phosphorylation defect type 23	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Combined oxidative phosphorylation defect type 23	Is a	Mitochondrial cardiomyopathy	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Interprets	Intellectual ability	true	Inferred relationship	Some	6
Combined oxidative phosphorylation defect type 23	Has interpretation	Impaired	true	Inferred relationship	Some	6
Combined oxidative phosphorylation defect type 23	Interprets	Adaptation behaviour	true	Inferred relationship	Some	7
Combined oxidative phosphorylation defect type 23	Has interpretation	Impaired	true	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4637166016	Combined oxidative phosphorylation defect type 23	en	Synonym	Active	Case insensitive	SNOMED CT core
4637167013	Combined oxidative phosphorylation defect type 23 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4637168015	COXPD23 - combined oxidative phosphorylation defect type 23	en	Synonym	Active	Case sensitive	SNOMED CT core
4637169011	A rare mitochondrial disease with characteristics of early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem.	en	Definition	Active	Case sensitive	SNOMED CT core